title: Acute hereditary tyrosinaemia type I: clinical, biochemical and haematological studies in twins.
abstract: Affected twins with acute hereditary tyrosinaemia type I are described. Attempts at therapy with a phenylalanine-tyrosine-methionine restricted diet supplemented with cysteine, vitamin E and ascorbic acid failed to influence the course of the disorder. The bleeding diathesis was due to a morbid reduction of a number of clotting factors, particularly factor VII, and this was associated with impaired platelet aggregation and release. The liver of one showed a marked reduction in fumarylacetoacetate lyase activity and her urine contained a potent inhibitor of red cell delta-aminolaevulinic acid dehydratase. Biochemical investigations of cultured fibroblasts suggest that these do not express the disorder and are unlikely to prove useful diagnostically.
mesh_terms: D000090:Acetoacetates / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood*; D002478:Cells, Cultured; D004200:Diseases in Twins; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000378:metabolism; D005650:Fumarates / Q000172:deficiency; D006801:Humans; D006867:Hydrolases / Q000172:deficiency; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood*; D008297:Male; D010974:Platelet Aggregation; D000623:Porphobilinogen Synthase / Q000097:blood; D014443:Tyrosine / Q000378:metabolism*; D014556:Urine
chemical_list: D000090:Acetoacetates; D005650:Fumarates; D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase; D000623:Porphobilinogen Synthase